Identification of two novel mutations (1448delA and Q682X) in the NF1 gene and analysis for nonsense mutations in patients with neurofibromatosis type 1.
Horiuchi
T
T
First Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Hatta
N
N
Watanabe
I
I
Kobayashi
Y
Y
Wallace
M R
MR
Shirakata
Y
Y
Ohtsuka
H
H
Fujita
S
S
D019943:Amino Acid Substitution; D001120:Arginine / Q000235:genetics; D002461:Cell Line, Transformed; D003062:Codon; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D006801:Humans; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000235:genetics*; D025542:Neurofibromin 1; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion
D003062:Codon; D025542:Neurofibromin 1; D011506:Proteins; D004247:DNA; D001120:Arginine